Canonical Allele Identifier: CA278667083
Gene: ABCC6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16203520_16203544del , CM000678.2:g.16203520_16203544del GRCh38
NC_000016.9:g.16297377_16297401del , CM000678.1:g.16297377_16297401del GRCh37
NC_000016.8:g.16204878_16204902del NCBI36
NG_007558.2:g.24929_24953del
NG_007558.3:g.25075_25099del

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.865_889del ENSP00000507301.1:p.Leu289AlafsTer4
ENST00000622290.5:c.865_889del ENSP00000483331.2:p.Leu289AlafsTer4
ENST00000205557.12:c.865_889del MANE Select ENSP00000205557.7:p.Leu289AlafsTer4
ENST00000205557.11:c.865_889del ENSP00000205557.7:p.Leu289AlafsTer4
ENST00000456970.6:c.865_889del ENSP00000405002.2:p.Leu289AlafsTer4
ENST00000574094.5:n.961_985del
ENST00000577103.1:c.*732_*756del ENSP00000459243.1:n.*732_*756del
ENST00000622290.4:c.865_889del ENSP00000483331.1:p.Leu289AlafsTer4
NM_001171.5:c.865_889del NP_001162.4:p.Leu289AlafsTer4
XM_011522479.1:c.865_889del XP_011520781.1:p.Leu289AlafsTer4
XM_011522480.1:c.523_547del XP_011520782.1:p.Leu175AlafsTer4
XM_011522481.1:c.523_547del XP_011520783.1:p.Leu175AlafsTer4
XM_011522482.1:c.865_889del XP_011520784.1:p.Leu289AlafsTer4
XR_932836.1:n.1100_1124del
XR_932837.1:n.1101_1125del
XR_932838.1:n.1101_1125del
NM_001351800.1:c.523_547del NP_001338729.1:p.Leu175AlafsTer4
NR_147784.1:n.902_926del
XM_011522479.2:c.865_889del XP_011520781.1:p.Leu289AlafsTer4
XM_011522481.3:c.523_547del XP_011520783.1:p.Leu175AlafsTer4
XM_011522482.3:c.865_889del XP_011520784.1:p.Leu289AlafsTer4
XM_017023212.1:c.865_889del XP_016878701.1:p.Leu289AlafsTer4
XM_017023214.1:c.865_889del XP_016878703.1:p.Leu289AlafsTer4
XM_024450261.1:c.901_925del XP_024306029.1:p.Leu301AlafsTer4
XR_932836.2:n.1046_1070del
XR_932837.3:n.1046_1070del
XR_932838.3:n.1046_1070del
NM_001171.6:c.865_889del MANE Select NP_001162.5:p.Leu289AlafsTer4
Search 100 bp 5'
Search 100 bp 3'